Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia

Preferred Label : Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 250500;

Details

Origin ID

250500;

UMLS CUI

C1855164;

Automatic exact mappings (from CISMeF team)
- Roy Maroteaux Kremp syndrome [MeSH concept]
Currated CISMeF NLP mapping
- roy maroteaux kremp syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Increased bone mineral density [HPO term]
- Spastic paraplegia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Roy Maroteaux Kremp syndrome [MeSH concept]
- roy maroteaux kremp syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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